Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001905228 | SCV002132046 | uncertain significance | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 45 of the COL11A1 gene. It does not directly change the encoded amino acid sequence of the COL11A1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs372941709, gnomAD 0.2%). This variant has been observed in individual(s) with clinical features of COL11A1-related conditions ‚Äã (PMID: 12673280). This variant is also known as IVS45+3G>A. ClinVar contains an entry for this variant (Variation ID: 1364086). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Gene |
RCV001905228 | SCV002504222 | likely benign | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing | See Variant Classification Assertion Criteria. |
Prevention |
RCV004542149 | SCV004787021 | likely benign | COL11A1-related disorder | 2019-04-24 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |